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The genetic mutation that Helen Hobbs’ lab found has led to the development of life-saving drugs.

UT Southwestern geneticist Helen Hobbs' research on cholesterol is featured in the Being Human Hall at the Perot Museum of Nature and Science. The Breakthrough Prize in Life Sciences she received in 2016 is on the left.(Miguel Perez / Staff )

Dr. Helen H. Hobbs, a professor of molecular genetics at UT Southwestern Medical Center, has received the 2018 Lefoulon-Delalande Grand Prize for her part in the discovery of a genetic mutation that promotes low levels of cholesterol.

She shares the 600,000 euro ($699,000) prize, awarded by the Academy of Sciences in France, with two other awardees.

“I am grateful to my scientific partner of the last 18 years, Jonathan Cohen,” Hobbs said via email. “We are a team and he deserves equal recognition. Also, credit is shared with the students and post-doctoral fellows in our laboratory who have worked so hard and contributed so importantly to any success we have enjoyed.”

The mutation that Hobbs’ lab found has led to the development of life-saving drugs that mimic the mutation’s effect by lowering high cholesterol and preventing heart disease.

Her team used data from the Dallas Heart Study, a genetic database of 3,500 Dallas residents that was compiled by Hobbs, Cohen and Dr. Ron Victor starting in 2000.

“The Dallas Heart Study was absolutely key to this work,” Cohen said. “The multi-ethnic sample was essential. We sought to maximize genetic diversity by including individuals with different genetic ancestries: African Americans, Hispanics and whites.”

Researchers were able to find a genetic mutation that helps the body reduce levels of low-density lipoprotein, or LDL cholesterol.

The PCSK9 gene produces a protein that helps regulate cholesterol in the blood. People with this particular genetic mutation don’t produce the protein, and they have lower levels of LDL cholesterol — and a lower risk of heart disease — as a result.

UT Southwestern geneticist Helen Hobbs' research on cholesterol is featured in the Being Human Hall at the Perot Museum of Nature and Science. The Breakthrough Prize in Life Sciences she received in 2016 is on display to the left.(Miguel Perez / Staff Writer)

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Soon after the discovery, pharmaceutical companies began making drugs that can block the protein and help lower cholesterol.

Dr. Michael Brown, one of Hobbs’ mentors at UT Southwestern, said these drugs are the most potent cholesterol-reducing drugs ever designed. Brown said the development of the Dallas Heart Study was a “tremendously bold initiative” that goes beyond Hobbs’ cholesterol research.

“In a much broader sense, her work established a new way to look at human genetics,” he said.

Hobbs also gives thanks to her other mentors, Dr. Joseph Goldstein and the late Dr. Donald Seldin. In 1985, Goldstein and Brown were the first faculty members at the medical school to receive Nobel Prizes in Medicine for their cholesterol research.

The Lefoulon-Delalande prize, which focuses on cardiovascular research, is awarded annually by the Academy of Sciences in France. UT Southwestern molecular biologist Eric Olson received the prize in 2009 for his research on the formation of heart muscles.

Hobbs is the director of the Eugene McDermott Center for Human Growth and Development, and an investigator with the Howard Hughes Medical Institute. She and her lab have received multiple prizes for their research into the PCSK9 gene, including the 2016 Breakthrough Prize in Life Sciences.